Cleidocranial dysplasia and RUNX2‐clinical phenotype–genotype correlation
Copyright policy )Cleidocranial dysplasia and RUNX2‐clinical phenotype–genotype correlation
Runt‐related transcription factor 2 (RUNX2/Cbfa1) is the main regulatory gene controlling skeletal development and morphogenesis in vertebrates. It is located on chromosome 6p21 and has two functional isoforms (type I and type II) under control of two alternate promoters (P1 and P2). Mutations within RUNX2 are linked to Cleidocranial dysplasia syndrome (CCD) in humans. CCD is an autosomal skeletal disorder characterized by several features such as delayed closure of fontanels, dental abnormalities and hypoplastic clavicles. Here, we summarize recent knowledge about RUNX2 function, mutations and their phenotypic consequences in patients.
- KU Leuven Belgium
- Postgraduate School of Molecular Medicine Poland
- Wrocław Medical University Poland
- Medical University of Lublin Poland
- Katholieke Universiteit Leuven Belgium
EXPRESSION, Heterozygote, INDIAN HEDGEHOG, RUNX2, MUTATION ANALYSIS, Core Binding Factor Alpha 1 Subunit, Cleidocranial dysplasia, 3105 Genetics, OSTEOBLAST DIFFERENTIATION, CBFA1, Humans, genetics, CHINESE PATIENTS, Genetic Association Studies, Genetics & Heredity, 0604 Genetics, Science & Technology, FUNCTIONAL-ANALYSIS, 3202 Clinical sciences, skeletal disorders, 1103 Clinical Sciences, TRANSCRIPTION FACTOR RUNX2, GENE, Pedigree, Phenotype, Mutation, BONE, Cleidocranial Dysplasia, Life Sciences & Biomedicine
EXPRESSION, Heterozygote, INDIAN HEDGEHOG, RUNX2, MUTATION ANALYSIS, Core Binding Factor Alpha 1 Subunit, Cleidocranial dysplasia, 3105 Genetics, OSTEOBLAST DIFFERENTIATION, CBFA1, Humans, genetics, CHINESE PATIENTS, Genetic Association Studies, Genetics & Heredity, 0604 Genetics, Science & Technology, FUNCTIONAL-ANALYSIS, 3202 Clinical sciences, skeletal disorders, 1103 Clinical Sciences, TRANSCRIPTION FACTOR RUNX2, GENE, Pedigree, Phenotype, Mutation, BONE, Cleidocranial Dysplasia, Life Sciences & Biomedicine
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